Canonical Allele Identifier: CA2576136447
Gene: PFN1 HGNC NCBI

Linked Data

gnomAD v4: 17-4945872-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945872A>G , CM000679.2:g.4945872A>G GRCh38
NC_000017.10:g.4849167A>G , CM000679.1:g.4849167A>G GRCh37
NC_000017.9:g.4789912A>G NCBI36
NG_012063.2:g.4782A>G
NG_032945.1:g.8215T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*28T>C MANE Select ENSP00000225655.5:n.*28T>C
ENST00000225655.5:c.*28T>C ENSP00000225655.5:n.*28T>C
ENST00000574872.1:c.*28T>C ENSP00000465019.1:n.*28T>C
NM_005022.3:c.*28T>C NP_005013.1:n.*28T>C
XM_017024761.1:c.*535T>C XP_016880250.1:n.*535T>C
NM_001375991.1:c.*535T>C NP_001362920.1:n.*535T>C
NM_005022.4:c.*28T>C MANE Select NP_005013.1:n.*28T>C
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